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Hearing Research|August 7, 2019
Next generation sequencing study in a cohort of Italian patients with syndromic hearing lossStefania Lenarduzzi, Anna Morgan, Flavio Faletra, et al.Human Mutation|October 19, 2012
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaMara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, et al.Human Mutation|March 7, 2013
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequencesPaola Monti, Debora Russo, Renata Bocciardi, et al.Genes|October 27, 2020
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian PopulationAnna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, et al.American Journal of Medical Genetics. Part A|May 1, 2020
Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative geneElisabetta Mariucci, Luca Spinardi, Silvia Stagni, et al.International Journal of Molecular Sciences|September 30, 2017
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type IFrancesco Bonatti, Alessia Adorni, Annalisa Matichecchia, et al.Genes|June 2, 2021
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane EyedropsDaniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, et al.Molecular Genetics & Genomic Medicine|December 28, 2020
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype studyVera Uliana, Paola Sebastio, Matteo Riva, et al.Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.Cytogenetic and Genome Research|January 10, 2015
Unbalanced translocations involving chromosome region 10q25.3q26.3 in patients with intellectual disability and complex phenotypesNataliya V Hryshchenko, Ganna M Bychkova, Lyubov V Tavokina, et al.Pageof 9